The Wait is Over....Sort Of

When you're waiting so long for news, you're always anticipating the call.  Yet, in waiting so long, we've almost been lulled by our routine that everything is starting to get back to some semblance of normal.

Last week we had a reminder that for now, that still isn't the case.

After developing a pretty high fever, in addition to vomiting, immunology told us they wanted to see Cole.  When we went in on Thursday it seemed Cole was over whatever he had  been fighting on Tuesday night.  His doctor was happy to see he was doing better and was ready to share Cole's exome sequencing results.

As long as we'd been waiting for this day, I was just as nervous as I was excited.  Whatever our doctor was about to share could change, even shatter, the cushion of comfort we've finally wrapped around our family.

Ultimlately, Cole has an autosomal recessive genetic mutation which indicates the possibility he will develop hemophagocytic lymphohistiocytosis, or HLH.  According to Cincinnati Children's, "HLH is a disorder of the immune system in which too many infection-fighting cells are produced and activated, causing damage to organs."

As most children affected by HLH are diagnosed after they have been ill, it is hard for doctors to predict what will happen with Cole, or whether he will ever develop HLH.  For now, they know having the mutation could explain the underlying cause of Cole's nk cell dysfunction as well as help them diagnose HLH in a timely manner if he were to develop it.  Time is essential in diagnosing HLH, as without treatment it is 100% fatal according to Cincinnati Children's.  Treatment is a bone marrow transplant.

For now, the plan with our doctors is to continue to be vigilant regarding exposures to any contagious illnesses with Cole.  In addition, at the development of any high fevers, immunology will be contacted so together we can monitor and track how the fever progresses as a warning sign of HLH is a persistent high fever.  After a certain pattern, Cole will be sent for blood work to determine if HLH has developed.  Doctors in Houston will also be looking at his current nk cell function with a new sample.  The hope is that with his Crohns in remission we might see some slight improvement with nk cell function.  If this is the case, based on what they know, we might be able to rule out the likelihood HLH will develop.  Since Cole has been sick, we have to wait a bit to send the new sample.  Locally, Cole's immunologist will be looking at his blood to see if he has developed any antibodies towards the various viruses we have been told his body cannot fight.  If we have had an unknown exposure and Cole has fought it, his doctor may reevaluate his current diagnosis.  So much new information, yet even more questions, not just by us, but Cole's physicians.

After hearing this news, my head was spinning.  Sure, Cole hasn't been diagnosed with this disease at this point but the possibility is frightening.

After falling asleep early Thursday night, Cole woke up crying and heaving.  It seemed he needed  to be sick, but couldn't.  When he finally was, he threw up blood.  We were sent to Children's Hospital.  Despite seeing liquid around his stomach in an ultrasound, the ct was clear so we were sent home.

Cole was pretty lethargic on Friday, but we chalked it up to being poked and prodded all night long, after all we were tired too.  By Saturday evening, he was throwing up or coughing up gobs of blood.  The increase in the amount coming up was alarming.  We went back to the hospital.  After being admitted, our gi doctors went back through the various tests and told us that Cole had pneumonia, which was present on the tests from Thursday.  After some antibiotics and fluids we were able to come home for Cole to recover.

As a whole, a pretty eventful week.  In terms of the news, we are taking it one day at a time, none of this could be expected, and none of it is in our control.  Like the rest of this journey, we have to believe God has a reason and trust in His plan.

Half Full

While it may not seem like it, I am always trying to look at the full part of my glass.  Well, this morning, my coffee cup!

Cole is actually drinking his instant breakfast as I type, instead of throwing it at the dog and he is up 10 ounces in the last week and a half.  Although he's still off the charts, he's moving in the right direction.  I'm not exactly sure what he's liked this past week but at least I've cooked or baked some winners.

Vials sent, sealed, and delivered fine.  Fingers crossed, blood marker results from Philly could be in as early as this afternoon.  From there I can only hope if the anticipated genetic tests are ordered the paperwork goes smoothly and approval is swift.  Cinci blood work will be a little longer, but I can be patient for a week, that isn't all that long these days.

Miraculously the car repair was not as bad as we feared, thus no more worries of being stranded on the side of a hot road with three kids.  Luckily, Nick's got a great partner at work who he happened to be carpooling with all summer, so there was no scrambling for a vehicle for our multiple medical commutes this week.  

In addition, it has been nice to spend some time outside in the sun with some very healthy friends.  After a long lonely winter, with little more than phone calls, a few of the girls' friends have come to swim.  They've had to stay outside, just in case, but Cole's afternoon nap has given the girls a little bit luxury where we have not had to say no for a change.  Due to my own appointments, they've even had a wonderful day with kids away from home, thanks to my friend Lori, brave enough to take them to art class, the playground, and then let them invade her house for the day with her own two kids, even though my #2 can be quite a challenge with hers.

We are still hopeful that I will be able to get back into my classroom this fall.  It is such a challenge to make decisions when you are still waiting for information.  I am so fortunate to be in a career where I have been able to take as much time as I have, and am optimistic to jump right back in with my colleagues, who I miss tremendously.  Again, I know I have changed over this journey, and know these individuals will treat me the same as before, which is all I want.  I don't want to be looked at as a sob story, because you know what, I don't feel sorry for myself.  We've welcomed one really cool kid into our family and he has opened our eyes to a different world.  I would never change that.  He just happens to have some hurdles to jump and needs our help, that's what parents do.  The team I work with is amazing, like a family, and I've been lucky to have them as co-workers and friends, and love that when I see them, it as we are picking up where we left off.  Looking forward to it on a regular basis somewhere on this road.

As a very proud, independent individual I have always wanted to do things myself because I could, and maybe I just don't want to seem weak or dependent.  I know many of you have generously asked what you can do, and honestly, I believe we are doing ok.  But the few times I have needed something and was just too darn stubborn to say anything, I am lucky to have people who just said they were doing this or that, whether watching the kids, dragging me out, understanding I was too tired for plans, or volunteering to take me to appointments for myself.  I am so thankful for you, and for those who really want to help, don't worry, I am not so shy or proud anymore that I will not ask, but am saving my requests for the days when I just may not be here to help if and when we are finally sent to Houston or Boston.     

Right now, your love, friendship, support, and understanding is all I need.  Knowing what I have in so many of you and the laughter of my children is what keeps me smiling past the rough patches.  That and, while it is cold, my coffee cup is still half full.

Hurry Up

There are times lately where I just am at a loss for words.

Whirlwind doesn't begin to describe our last month.  Between the start of soccer and end of the year festivities, we survived a very long viral infection with the boy.  Luckily, while it was tough and fast, the flare that came after only lasted a few days.  However, we are now combating the after effects of the weight he has lost.

On the other hand, a few weeks ago we participated in the Take Steps Against Crohn's and Colitis in honor of Cole.  Not only was it powerful to see so many other people there in support of IBD, but heartwarming to be joined by so many people on our team in support of not just Cole, but our family.  It has been a challenging journey and this day reminded me that we are not alone, even though there are days it sure feels like it.

Throughout our medical odyssey, there has been tremendous "hurry up and wait" in terms of testing and moving forward.  It seems we've returned to the first part of the cycle once again.

Once again, we are heading for numerous blood tests as ordered by a world renowned immunologist whose specialty is nk cell function.

Late Friday afternoon we received a call from our immunologist outlining some of this doctor's concerns as well as his desire to have a number of new tests run that should offer answers, or at the least, further direction.  Due to the impressively low function, yet not the absence of function, this man believes there must be an underlying cause, not just Cole's IBD.  Again, the blood markers he is looking for in combination with the other panels being run should confirm or discredit some of his thoughts.

As before, some of the blood drawn will go to Cincinnati Children's.  Additionally, a portion will be sent to a lab in Philadelphia.  Some of the tests take a few days, some others, a week or two.  These waits aren't really all that long, considering the lengthy wait last December for Cole's genetic panel for NEMOS. Still, depending on the results we already know further genetic testing may be done and I am not looking forward to that wait.

But, no matter what, I will continue to be patient, one day at a time.  I will continue to share here, just know that there are days neither Nick or I have the words to express where we are and are just trying to keep things as normal as possible for the kids as we move down this road.  This new normal has taught me more than I could ever describe, and my heart goes out to those parents and families whose adventures are much harder than ours.  It is in talking to these families I realize how truly fortunate we are, no matter how difficult our path has been, it could be so much steeper.

Tidbits

Yes, I know it is late, or rather early, but as I monitor Paige's fever, I figure it's a good time to share a few tidbits with you.

First, my guest blog about our family traditions on Makingofamom.com should be posted later today.  Please check it out and let me know what you think.  While you are there, take a few minutes to peruse Stefanie's site, I love her growing list of book reviews, crafts, and recipes.  There is something there for all us moms, dads too!

Secondly, we did get a small morsel of news today from Cole's biopsies.  They did find a granuloma, which could indicate a few things.  G.i. shared their thoughts, however was awaiting further testing and feedback from our immunologist.  We were assured that they would be calling sometime Wednesday with more information regarding this finding as well as the results of the Cincinnati blood tests.

I wish I had more to share, but now the tidbits are all I've got.

Walking Outside

Every day is a new adventure it seems.  Once we got the phone calls from both genetics and immunology informing us about Cole's results we were also instructed on the next series of steps we needed to take, immediately.

Now that Cole tested negative for NEMOS, there was still the mystery as to what was the root cause of his NK cell dysfunction.  Our immunologist explained not only the case studies she had been comparing him to, but her contact with a leading physician and researcher at Cincinnati Children's Hospital.  They stated we would need to take Cole for additional function tests as soon as possible.  Besides the repeat NK cell test they would also be looking at his perforin/granzyme B functions as well as his IL-2 receptors.  Just like the last time, the blood would be drawn here, then shipped to Cincinnati for evaluation.


In addition to the function tests, now that the genetic results were in, the gastrointestinal doctors wanted Cole's colonoscopy scheduled as quickly as possible.  With a few calls, OR time was found and the procedure was scheduled for next week.


As I drove to our blood work appointment, I dreaded the draw.  Not the screaming I knew was coming, but his face. The absolute look of betrayal when I have to hold him down, then the sheer terror in his eyes as he is pierced while tube after tube is filled with his blood just shatters my heart in a million pieces every single time!  Luckily, today's phlebotomist was the best we've had up to this point.  Unlike others, the first time was a charm and she was easily able to fill the seven tubes she needed without utilizing the syringes to suck additional blood from Cole's veins.  Within a few minutes my baby was back in my arms, twirling my ponytail in his hand, his head lying on my shoulder.


It is truly incredible just how forgiving a little one can be.  Here I struggled from the moment I knew he needed more blood work and in an instant it was like he had forgotten that I assisted the woman who had caused him such pain.  Immediately I thought about the quote that "having children is to decide forever to have your heart go walking outside of your body." 


Initially I realized what this meant not long after our first daughter, Paige, was born.  She was colicky and I just had no idea what to do to soothe her.  After a few days when nothing was working I felt like I was doing something wrong.  Unless we were hiking it seemed like she cried 24/7.  My heart ached terribly when I saw my friends with happy babies while mine was so sad.  Fortunately, as she grew, she also grew out of her colic.  About that time, I needed to return to work and leave her which caused me a worry like I had never experienced.  After a few weeks, I knew she would be ok, after all, she was home with her dad.  Still, the idea that as her mom, I could not always be there each and every second she might need me broke my heart.  I wanted to be able to keep her safe from anything that could cause her pain, like when she was safely growing in my belly.  In the end I knew I could not shelter her from the world, that in order for her to grow and learn she would have successes and failures, and in both, joy and pain.  So while I would worry and share in her disappointments, I would also be proud of her achievements as she grew into an independent child, one learning to make choices and live with the consequences, with and without my help as the situations would allow.  


While more of my heart left my chest with babies two and three, I realized this feeling would not subside and was a natural one for any parent.  There is nothing like the love a parent has for a child not to mention the lengths we parents will go to keep our children safe and free from pain.  


While I still ache when I can't stop Cole's agony or afflictions, I know he is surrounded by love and in good hands, which is the most I can ask for, not just for him, but for all my kids.  No matter what they may endure in their lives, whether I am with them physically or not, a piece of my heart will always be with each of them wherever they may roam.  For this week, it means mine will be walking around a few classrooms and in a hospital operating room while I sit nervously in the waiting room, anxiously hoping for answers. 

Still Reflecting

When we left the g.i. office I was at a loss. A baby is not supposed to be sick. Their new life should be full of wonder, discovery, and vigor, not white coats and needles. Not to mention the now shattered faith I had in the doctors to give us answers, not just more questions.

After the appointment, I dropped Nick and Cole at home because I needed to be alone. As I drove to the hospital pharmacy, anger and confusion took turns swelling over me like waves before ultimately receding to sadness for my son. Why did he have to endure all of this? Why couldn't it be me instead?

I picked up his medicine, but didn't start it that evening because he had a fever. I wanted to be sure he was alright before introducing anything else into his little body. The next day the pharmacy called and was relieved to hear we hadn't begun since the dosing on two of the medications was incorrect. Once we had been apologized to profusely and told correct amounts, we called the doctor to double check again. They assured us it was right.

A few days later one of the gastro doctors called us to check on Cole. It was at this point we learned they were consulting with another doctor in Montreal. His advice was to see an immunologist as soon as possible. The g.i. doctor had already made us an appointment for the following week.

Before the physical, the doctor had many questions about Cole's journey. She discussed her observations about Cole based on his previous tests and her exam. After ordering more blood work to check a few things she told us it was nice to meet us, then, wished us luck since she didn't anticipate the need to see us again.

Imagine my surprise when checking in at the hospital for his appointment and finding her waiting for us. A few outstanding blood tests had returned since we had met and she explained the need to have additional screens run on Cole. One of these tests would go to Roswell Park, not because he had cancer, but because of their expertise in what she was looking to have analyzed. Another would have to be drawn the following week and sent to the Cincinnati Children's Hospital to check something called NK cell function.

While the nurses poked around, commenting on the atrocious state of his veins as he wiggled and wailed, I tried without success to calm Cole with his favorite song, Five Little Monkeys.

All of it hit me in that moment, the past week of expedited appointments and tests, the idea of sending specimens to Roswell and Cincinnati, the g.i. doctor's echo that they had never seen anything quite like this and yet another blood battle, it was like being hurled into a brick wall. Here I began the day thinking we were just having precautionary tests. Within minutes the new detour had thrown me for a loop, leaving me grasping to understand the bits of new information about what NK cells were and what they were hoping to find in these tests, which now felt anything but routine.

Once again, we waited.

The phone call came a few weeks later. Overall, most of the tests were in the normal range, which was a good thing, but the test from Cincinnati was alarming. Cole's NK cells were severely dysfunctional. In other words, his immune system was not working the way it should be. The good news was that he had some function, which was better than the zero that some kids have.

With such low function, as well as Cole's other symptoms, immunology suspected Cole might have a primary immunodeficiency. They referred us to genetics in order to have a test for a rare genetic disorder called NEMOS.

Days dragged as we waited for our appointment, little did we know what kind of wait we were in for.

This appointment was unlike the others. Most of the time we met with a genetic counselor. First, she built an extensive family tree, outlining all medical conditions we were aware of in a few generations of our extended families. Then she explained exactly why Cole was having the test and how results were formulated. Results would take between 4- 6 weeks, maybe longer, since there were more than 20,000 pairs of chromosomal code to be analyzed. Even after the test was complete, results could need further interpretation by comparing them to the genetic codes of my siblings and me.

Once we were clear on what exactly NEMOS was, why the disorder was suspected, and what the testing entailed, we met the doctor. She was compassionate, swiftly completing her assessment while warmly addressing our concerns and giving us advice. After she finished, we signed consent forms for the test and were moved to another waiting room before the blood draw.

This time I let Daddy do the honors as I snuck over to the hospital pharmacy to pick up refills. When the draw was done, we left, emotionally exhausted from the day, with answers seemingly ages away.

Which brings us to today. We are still waiting. Each time the phone rings and I see a doctor's number on the caller id my heart skips a beat.

Throughout all of this, we've faced other challenges. We've continued the food fight, but learned Cole loves bananas and venison, luckily, not together. We've struggled with developmental delays, however he makes a little progress every day and is catching up. We've even come up with a few tricks to get Cole to take his medicines so I am no longer wearing them as my latest accessory.

In the meantime, like other parents, we've been celebrating milestones. Cole's first birthday and first steps, weight gain after a month of weight loss, his literal burst of mobility after the magic course of steroids, and the first full night of sleep.

Every day is different, some much better than others. Yet each day brings out more of his emerging personality, one filled with antics, and let me tell you, with Cole and his sisters, we will never lack for laughter, even in these uncertain times.